Nonhealing ulcers in a young male Riquelme‐Mc Loughlin, Constanza; Gómez‐Armayones, Sara; Mascaró, José Manuel
Australasian journal of dermatology,
February 2019, 2019-Feb, 2019-02-00, 20190201, Letnik:
60, Številka:
1
Journal Article
Pemphigus vulgaris is an infrequent but life-threatening autoimmune blistering disease that is rare in the pediatric age. Although the mainstay of therapy for childhood pemphigus vulgaris (CPV) is ...steroids, adjuvant immunosuppressive drugs are often needed to control the disease. Thus, an important part of CPV morbidity can be related to treatment. We report the youngest CPV patient described in the English literature, an 18-month-old boy, who has been followed up for 16 years. During this period, the patient has received several immunosuppressive therapies with variable response. He has finally achieved a long-lasting and complete remission with rituximab. Successful treatment with rituximab has previously been reported in 6 cases of CPV, in whom rituximab presented a good side effect profile. Our patient has experienced a chronic and severe clinical course with multiple flares eventually developing vegetative lesions. Since he presented refractoriness to multiple therapies, we administered rituximab. The introduction of this drug led to a dramatic clinical response and a long-term clinical remission. Based on the experience of this case and the data reported in the literature, we believe that rituximab may be a safe and efficacious agent for the treatment of severe CPV.
The presence of anti-desmocollin (Dsc) antibodies is rarely described in autoimmune blistering diseases patients. Moreover, several clinical phenotypes of pemphigus may be associated with these ...antibodies. In this review we analyze clinicopathological, immunologic and outcome features of anti-Dsc autoimmune blistering diseases patients, to improve their diagnosis and management. We conducted a systematic search of PubMed and Embase (1990-present) for studies reporting cases of autoimmune blistering diseases with anti-Dsc antibodies. We classified the selected patients as patients with exclusively anti-Dsc autoantibodies, and patients with anti-Dsc and other autoantibodies. Of 93 cases with anti-Dsc autoantibodies included, 38 (41%) had exclusively these antibodies. Only 18% of patients presented with the typical clinicopathological phenotype of pemphigus vulgaris or pemphigus foliaceous. Mucosal involvement was seen in approximately half of the patients. Up to 18% of cases were associated with neoplasms. Acantholysis was described in 54% of cases with histopathological information. Treatments and outcomes vary in the different clinical phenotypes. The presence of anti-Dsc antibodies must be suspected mainly in those patients with either atypical pemphigus, in special with clinical pustules, or in cases showing intraepithelial or dermal neutrophilic/eosinophilic infiltrate on histological examination and dual pattern by direct immunofluorescence examination.
RESUMEN: El lupus eritematoso, enfermedad inmunomediada, inflamatoria, crónica, multisistémica, con toque cutáneo en la mayoría de los casos, pudiendo la afectación cutánea preceder incluso en ...décadas a la sistémica, o ser un marcador de actividad. La afectación cutánea del lupus se divide en lesiones específicas e inespecíficas, según tengan o no dermatitis de interfase a la histopatología. Objetivos: General: Describir las características clínicas, epidemiológicas e histopatológicas de los pacientes con lupus eritematoso con manifestaciones cutáneas que acudieron a la Cátedra de Dermatología de FCM-UNA desde enero de 2008 a diciembre de 2018. Material y método: Diseño: Estudio observacional descriptivo de corte transversal. Mues treo: No probabilístico de casos consecutivos. Criterios de Inclusión: Pacientes portadores de lupus eritematoso de ambos sexos y cualquier edad que acudieron al Consultorio Ex terno de la Cátedra de Dermatología del Hospital de Clínicas-UNA desde enero de 2008 a diciembre de 2018, portadores de lesión cutánea asociada a Lupus Eritematoso con confirmación anátomo-patológica. Fuentes de información: Pacientes que acudieron a la Cátedra de Dermatología e Historias clínicas de pacientes con diagnóstico de lupus eritematoso. Resultados: Obtuvimos preponderancia en mujeres (79%) en edad reproductiva (32,7%), procedentes de área urbana (56%), amas de casa (37,7%), con exposición solar (62%), en su mayoría múltiples lesiones (71%), localizadas en rostro (28%), correspondiendo preferentemente a lesiones específicas del lupus (68%), los cuales fueron representados por el lupus eritematoso cutáneo crónico (LECC) en 56% de las lesiones. Dentro de las lesiones inespecíficas fueron mayoría las vasculitis (38%), todos los pacientes recibieron indicación de antipalúdicos y protección solar, manejo multidisciplinario con reumatología y otros departamentos según el caso. Conclusión: Identificar de manera adecuada éstas lesiones proporciona un dato fundamental para el diagnóstico y el manejo de los pacientes lúpicos, en muchas ocasiones estas manifestaciones cutáneas y/o mucosas pueden revelar actividad sistémica.
Key Clinical Message
The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of ...gene therapy could be extremely difficult in particular situations.
A 9‐month‐old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).
This case report highlights the value of reanalyzing genetic data in patients with rare diseases and developmental delay. It also emphasizes the importance of considering potential superimposed diagnoses in individuals with multiple genetic variants. Early diagnosis and intervention can improve outcomes and prevent further complications in affected patients.
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